August 8, 2017Journal of Cardiovascular Development and DiseaseOpen Access

Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy

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Why the study?

Does whole exome sequencing identify the genetic basis of pediatric dilated cardiomyopathy in affected children?

Population

21 affected children with pediatric dilated cardiomyopathy, mean age 5 years, whose parents had normal…

Design

Case_series

Authors

PLPamela A. LongMayo Clinic in Arizona JEJared M. EvansIntermountain Healthcare TOTimothy M. OlsonPediatric Cardiology

Discussion

Member takes

Implication

May support etiology assessment in pediatric DCM; leaves open routine adoption pending larger validation.

Structured PICO

Does whole exome sequencing identify the genetic basis of pediatric dilated cardiomyopathy in affected children?

Population

21 affected children with pediatric dilated cardiomyopathy (15 sporadic and 3 affected-siblings cases), mean age 5 years, whose parents had normal echocardiograms (mean age 39 years). 12 underwent cardiac transplantation and 5 died with severe heart failure.

Intervention

Parent-offspring whole exome sequencing (WES)

Outcome

Diagnostic yield of whole exome sequencing

Whole exome sequencing provides a high diagnostic yield (50%) in pediatric dilated cardiomyopathy, aiding in explaining the etiology and enabling informed family planning.

Cite This Study

Long et al. (2017) studied this question.

synapsesocial.com/papers/6a3302687282da61628074b6 https://doi.org/10.3390/jcdd4030011

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Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider